PDB
MCID: PGT001
MIFTS: 75

Paget's Disease of Bone (PDB) malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Paget's Disease of Bone

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MedlinePlus:33 Paget's disease of bone causes your bones to grow too large and weak. they also might break easily. the disease can lead to other health problems, too, such as arthritis and hearing loss. you can have paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. the disease might affect one or several bones, but not your entire skeleton. more men than women have the disease. it is most common in older people. no one knows what causes paget's disease. in some cases, a virus might be responsible. it tends to run in families. many people do not know they have paget's disease because their symptoms are mild. for others, symptoms can include pain enlarged bones broken bones damaged cartilage in joints doctors use blood tests and imaging tests to diagnose paget's disease. early diagnosis and treatment can prevent some symptoms from getting worse. treatments include medicines and sometimes surgery. a good diet and exercise might also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Paget's Disease of Bone, also known as paget disease of bone, is related to frontotemporal dementia and dementia, and has symptoms including An important gene associated with Paget's Disease of Bone is SQSTM1 (sequestosome 1), and among its related pathways are Osteoblast Signaling and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs calcitonin and salmon calcitonin and the compounds pyridinoline and calcium gluconate have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and vertebral column, and related mouse phenotypes are limbs/digits/tail and integument.

Disease Ontology:8 A bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

Genetics Home Reference:21 Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).

NIH Rare Diseases:42 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. this condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. the disease may affect only one bone or several bones; but it does not affect the entire skeleton. bones with paget disease may break more easily, and the disease can lead to other health problems. the cause of paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. last updated: 12/12/2011

Description from OMIM:46 602080

Aliases & Classifications for Paget's Disease of Bone

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Paget's Disease of Bone, Aliases & Descriptions:

Name: Paget's Disease of Bone 8 21 33 62
Paget Disease of Bone 8 9 42 21 46
Osteitis Deformans 8 42 22 21 62
Osseous Paget's Disease 8 21 62
Paget's Bone Disease 8 20 62
 
Pagets Disease of Bone 10 62
Pdb 42 21
Paget Disease, Bone 21
Pagets Bone Disease 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology8 DOID:5408
NCIt39 C3292
OMIM46 602080
ICD1025 M88

Related Diseases for Paget's Disease of Bone

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Diseases related to Paget's Disease of Bone via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia31.3SQSTM1, VCP
2dementia31.2SQSTM1, TNFRSF11B, VCP
3mammary paget's disease31.0SQSTM1, VCP
4osteitis fibrosa30.9BGLAP
5osteosclerosis30.4TNFRSF11B, TNFSF11
6primary hyperparathyroidism30.4BGLAP, CALCA
7paget disease, juvenile30.4TNFSF11, CALCA, TNFRSF11B, TNFRSF11A
8osteosarcoma29.7TNFRSF11A, TNFRSF11B, BGLAP, TNFSF11
9hyperparathyroidism29.7TNFSF11, CALCA, TNFRSF11B, BGLAP
10prostate cancer29.7TNFSF11, TNFRSF11A, SQSTM1, TNFRSF11B, BGLAP
11osteoporosis29.6TNFRSF11A, CALCA, BGLAP, TNFSF11, TNFRSF11B
12breast cancer29.4VCP, SQSTM1, TNFRSF11A, CALCA, TNFSF11, TNFRSF11B
13myopathy10.7
14inclusion body myopathy with paget disease of bone and frontotemporal dementia10.6
15inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.5
16paget disease of bone, familial10.4
17angioid streaks10.4
18giant cell reparative granuloma10.4TNFRSF11A, CALCA
19neuropathy10.3CALCA, GNE
20inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.3
21spastic paraplegia - paget disease of bone10.3
22osteomyelitis10.3TNFSF11
23periapical granuloma10.3TNFSF11
24iritis10.2
25prostatitis10.2
26retinitis10.2
27hemifacial spasm10.2
28idiopathic juvenile osteoporosis10.2BGLAP, CALCA
29pseudohypoparathyroidism10.2BGLAP, CALCA
30amyotrophic lateral sclerosis type 1410.2SQSTM1, VCP, OPTN
31hypoparathyroidism10.1BGLAP, CALCA
32hypophosphatemia10.1BGLAP, CALCA
33limb-girdle muscular dystrophy10.1
34muscular dystrophy10.1
35motor neuron disease10.1VCP, SQSTM1
36giant cell tumor10.1CALCA, TNFSF11
37cherubism10.1TNFSF11, CALCA
38hypophosphatasia10.1
39nevus comedonicus syndrome10.1
40synovitis10.1TNFRSF11B, TNFSF11
41aortic valve stenosis10.0TNFSF11, TNFRSF11B
42goiter10.0BGLAP, CALCA
43osteopetrosis autosomal dominant type 210.0TNFSF11, BGLAP
44beta thalassemia10.0TNFRSF11B, TNFSF11
45gingivitis10.0TNFSF11, TNFRSF11B
46psoriatic arthritis10.0TNFSF11, TNFRSF11B
47renal osteodystrophy10.0TNFRSF11B, CALCA, BGLAP
48secondary hyperparathyroidism of renal origin10.0CALCA, BGLAP, TNFRSF11B
49osteomalacia10.0TNFRSF11B, BGLAP, CALCA
50cushing's syndrome10.0CALCA, BGLAP, TNFRSF11B

Graphical network of the top 20 diseases related to Paget's Disease of Bone:



Diseases related to paget's disease of bone

Symptoms for Paget's Disease of Bone

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Symptoms by clinical synopsis from OMIM:

602080

Clinical features from OMIM:

602080

HPO human phenotypes related to Paget's Disease of Bone:

(show all 16)
id Description Frequency HPO Source Accession
1 bilateral conductive hearing impairment 40% HP:0008513
2 autosomal dominant inheritance HP:0000006
3 heterogeneous HP:0001425
4 tetraparesis HP:0002273
5 paraparesis HP:0002385
6 long-tract signs HP:0002423
7 brain stem compression HP:0002512
8 abnormality of pelvic girdle bone morphology HP:0002644
9 bone pain HP:0002653
10 increased susceptibility to fractures HP:0002659
11 osteolysis HP:0002797
12 vertebral compression fractures HP:0002953
13 hydroxyprolinuria HP:0003080
14 fractures of the long bones HP:0003084
15 elevated alkaline phosphatase HP:0003155
16 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Paget's Disease of Bone

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Drug clinical trials:

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Search NIH Clinical Center for Paget's Disease of Bone

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Paget's Disease of Bone

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Genetic tests related to Paget's Disease of Bone:

id Genetic test Affiliating Genes
1 Paget Disease of Bone20 TNFRSF11A
2 Osteitis Deformans22

Anatomical Context for Paget's Disease of Bone

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MalaCards organs/tissues related to Paget's Disease of Bone:

32
Bone, Testes, Skin, Bone marrow, Prostate, Heart, Breast, Monocytes

FMA organs/tissues related to Paget's Disease of Bone:

14
Skull, Pelvis, Vertebral column, Set of limbs

Animal Models for Paget's Disease of Bone or affiliated genes

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MGI Mouse Phenotypes related to Paget's Disease of Bone:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0VCP, TNFRSF11B, TNFSF11, TNFRSF11A
2MP:00107718.6TNFRSF11A, TNFSF11, VCP, CALCA, SQSTM1
3MP:00053908.3SQSTM1, CALCA, VCP, TNFRSF11B, TNFSF11, TNFRSF11A

Publications for Paget's Disease of Bone

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Articles related to Paget's Disease of Bone:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Pathobiology of Paget's Disease of Bone. (25025000)
2014
2
Modifications to Nano- and Microstructural Quality and the Effects on Mechanical Integrity in Paget's Disease of Bone. (25112610)
2014
3
Further evidence supporting a genetic background for Paget's disease of bone in Spain. (23350154)
2012
4
Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. (22796589)
2012
5
Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population. (21073987)
2011
6
Zoledronic acid-induced transient hepatotoxicity in a patient effectively treated for Paget's disease of bone. (20407889)
2011
7
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. (20436471)
2010
8
Multiple giant cell tumors in maxilla and skull complicating Paget's disease of bone. (21319038)
2010
9
Paget's disease of bone is not associated with common polymorphisms in interleukin-6, interleukin-8 and tumor necrosis factor alpha genes. (20709566)
2010
10
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. (20335036)
2010
11
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
12
Infiltrating giant cell tumor in a case of Paget's disease of bone. (20234860)
2009
13
The effect of zoledronic acid on serum dickkopf-1, osteoprotegerin, and RANKL in patients with Paget's disease of bone. (19670154)
2009
14
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone. (19067022)
2009
15
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone. (18543015)
2008
16
Zoledronic acid for treatment of Paget's disease of bone. (17956205)
2007
17
Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. (16831914)
2006
18
Paget's disease of bone. (17117306)
2006
19
Genetics of Paget's disease of bone. (16574459)
2006
20
Biochemical assessment of Paget's disease of bone. (17229003)
2006
21
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. (16199218)
2006
22
(18)F-fluoride PET for monitoring therapeutic response in Paget's disease of bone. (16204715)
2005
23
Non-isomerized C-telopeptide fragments are highly sensitive markers for monitoring disease activity and treatment efficacy in Paget's disease of bone. (15765177)
2005
24
Increased arterial calcification in Paget's disease of bone. (16151674)
2005
25
Total knee arthroplasty in patients with Paget's disease of bone at the knee. (16139702)
2005
26
Low dose of oral alendronate decreases bone turnover in Japanese patients with Paget's disease of bone. (15981032)
2005
27
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. (15647816)
2005
28
Endothelin-1 levels in patients with Paget's disease of bone. (16320159)
2005
29
Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone. (14997007)
2004
30
Paget's disease of bone. (15347275)
2004
31
Paget's disease of bone in patients younger than 40 years. (15043116)
2004
32
Paget's disease of bone: presentation, extent and response to bisphosphonates. (12405502)
2002
33
Diagnosis and treatment of Paget's disease of bone. (12046775)
2002
34
Paget's disease of bone: a disease of the osteoclast. (11705325)
2001
35
Paget's disease of bone: rheumatologic complications. (10321927)
1999
36
Treatment of patients with Paget's disease of bone. (10595863)
1999
37
A randomized, double-blind comparison of risedronate and etidronate in the treatment of Paget's disease of bone. Paget's Risedronate/Etidronate Study Group. (10335722)
1999
38
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. (9626621)
1998
39
Current options for the treatment of Paget's disease of bone]. (8966189)
1996
40
Paget's disease of bone and unvaccinated dogs. (8830987)
1996
41
Hearing loss in Paget's disease of bone: evidence of auditory nerve integrity. (8579174)
1995
42
Efficacy and safety of drugs for Paget's disease of bone. (8573423)
1995
43
Paget's disease of bone. (7559686)
1995
44
Hearing loss in Paget's disease of bone: the relationship between pure-tone thresholds and mineral density of the cochlear capsule. (7607977)
1995
45
Treated Paget's disease of bone mimicking metastatic cancer. (7895443)
1995
46
Evaluation of the efficacy and safety of oral tiludronate in Paget's disease of bone. A double-blind, multiple-dosage, placebo-controlled study. (1642662)
1992
47
Paramyxovirus-like nuclear inclusions identical to those of Paget's disease of bone detected in giant cells of primary oxalosis. (1455692)
1992
48
Interleukin 6. A potential autocrine/paracrine factor in Paget's disease of bone. (1729280)
1992
49
Failure to detect paramyxovirus sequences in Paget's disease of bone using the polymerase chain reaction. (1805546)
1991
50
Alterations in vitamin D metabolites during treatment of Paget's disease of bone with calcitonin or etidronate. (2125401)
1990

Variations for Paget's Disease of Bone

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UniProtKB/Swiss-Prot genetic disease variations for Paget's Disease of Bone:

64
id Symbol AA change Variation ID SNP ID
1SQSTM1p.Pro387LeuVAR_023592
2SQSTM1p.Pro392LeuVAR_023593rs104893941
3SQSTM1p.Ser399ProVAR_023594
4SQSTM1p.Met404ThrVAR_023595
5SQSTM1p.Met404ValVAR_023596
6SQSTM1p.Gly411SerVAR_023597
7SQSTM1p.Gly425ArgVAR_023598

Clinvar genetic disease variations for Paget's Disease of Bone:

6
id Gene Name Type Significance SNP ID Assembly Location
1TNFRSF11ATNFRSF11A, 27-BP DUP, NT75duplicationPathogenic
2SQSTM1NM_001142298.1(SQSTM1): c.923C> T (p.Pro308Leu)single nucleotide variantPathogenicrs104893941GRCh37Chr 5, 179263445: 179263445
3SQSTM1SQSTM1, 1-BP INS, 1224TinsertionPathogenic
4SQSTM1SQSTM1, IVS7, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Paget's Disease of Bone

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Expression patterns in normal tissues for genes affiliated with Paget's Disease of Bone

Search GEO for disease gene expression data for Paget's Disease of Bone.

Pathways for genes affiliated with Paget's Disease of Bone

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Pathways related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TNFRSF11B, TNFSF11
29.5TNFSF11, BGLAP
39.5SQSTM1, TNFSF11, TNFRSF11A
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.5TNFRSF11A, TNFSF11, SQSTM1
5
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
9.3TNFRSF11B, TNFSF11, TNFRSF11A
6
Show member pathways
9.3TNFRSF11A, TNFSF11, TNFRSF11B
79.3TNFRSF11A, TNFSF11, TNFRSF11B
8
Show member pathways
9.3TNFRSF11B, TNFSF11, TNFRSF11A
9
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling60
9.0TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
109.0SQSTM1, TNFRSF11B, TNFSF11, TNFRSF11A
118.5CALCA, TNFRSF11B, TNFSF11, TNFRSF11A, BGLAP

Compounds for genes affiliated with Paget's Disease of Bone

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Compounds related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1pyridinoline4410.1TNFRSF11B, CALCA
2calcium gluconate4410.1BGLAP, CALCA
3ipriflavone4410.1BGLAP, CALCA
424,25-dihydroxyvitamin d34410.0BGLAP, CALCA
5alfacalcidol44 61 1112.0BGLAP, CALCA
6strontium ranelate4410.0TNFSF11, CALCA
7nandrolone decanoate44 1111.0BGLAP, CALCA
8deflazacort4410.0BGLAP, TNFRSF11B
9hcc-1449.9TNFRSF11B, TNFSF11
10laccer449.9TNFRSF11A, TNFSF11
11calcium carbonate449.8BGLAP, CALCA
12etidronate449.7CALCA, TNFRSF11B, BGLAP
13thiazide449.7CALCA, BGLAP
14polyethylene449.7TNFRSF11B, TNFSF11, TNFRSF11A
15hydroxyproline44 24 1111.6BGLAP, TNFRSF11B, CALCA
16pmma449.6CALCA, TNFRSF11B, TNFSF11
17sodium fluoride449.6CALCA, BGLAP
18tartrate449.6BGLAP, TNFSF11, CALCA
19gp 130449.6TNFRSF11B, TNFSF11, TNFRSF11A
20titanium449.5TNFRSF11B, TNFSF11, BGLAP
21ns 39844 6110.5TNFRSF11B, TNFSF11, BGLAP
22infliximab44 50 1111.4TNFRSF11B, TNFSF11, BGLAP
23denosumab44 1110.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
24hydrocortisone44 2 61 1112.4CALCA, TNFRSF11B, BGLAP
25procollagen449.4TNFRSF11B, TNFSF11, BGLAP
26azathioprine44 2 50 1112.3TNFRSF11B, TNFSF11, BGLAP
27hydroxyapatite449.2BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B
28teriparatide44 1110.2BGLAP, TNFSF11, TNFRSF11B, CALCA
29ibandronate44 1110.2BGLAP, TNFSF11, TNFRSF11B, CALCA
30vitamin k2449.2CALCA, TNFRSF11B, TNFSF11, BGLAP
31pamidronate44 50 1111.2BGLAP, TNFSF11, TNFRSF11B, CALCA
32risedronate44 50 28 61 1113.2CALCA, TNFRSF11B, TNFSF11, BGLAP
33clodronate44 50 1111.2BGLAP, TNFSF11, TNFRSF11B, CALCA
34deoxypyridinoline449.2BGLAP, TNFSF11, TNFRSF11B, CALCA
35zoledronic acid449.2BGLAP, TNFSF11, TNFRSF11B, CALCA
36alendronate44 50 1111.2BGLAP, TNFSF11, TNFRSF11B, CALCA
3725-hydroxyvitamin d449.2BGLAP, TNFSF11, TNFRSF11B, CALCA
38phosphorus449.2BGLAP, TNFSF11, TNFRSF11B, CALCA
39vitamin d449.1CALCA, TNFRSF11B, TNFSF11, BGLAP
40thyroxine44 2410.0CALCA, TNFRSF11B, BGLAP
41cyclosporin a44 28 6111.0CALCA, TNFRSF11B, TNFSF11, BGLAP
42raloxifene44 50 28 1112.0BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
431,25 dihydroxy vitamin d3448.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
44calcitriol44 61 24 1111.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
45pge2448.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
46vegf448.8BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
47dexamethasone44 50 28 1111.8BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, OPTN
48creatinine448.8BGLAP, TNFSF11, TNFRSF11B, CALCA
49estrogen448.6BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
50serine448.5BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, VCP, SQSTM1

GO Terms for genes affiliated with Paget's Disease of Bone

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Biological processes related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:0718489.9TNFRSF11A, TNFSF11
2TNFSF11-mediated signaling pathwayGO:0718479.8TNFRSF11A, TNFSF11
3positive regulation of fever generation by positive regulation of prostaglandin secretionGO:0718129.8TNFRSF11A, TNFSF11
4negative regulation of bone resorptionGO:0457799.7CALCA, TNFRSF11B
5tumor necrosis factor-mediated signaling pathwayGO:0332099.7TNFSF11, TNFRSF11A
6mammary gland alveolus developmentGO:0607499.6TNFRSF11A, TNFSF11
7monocyte chemotaxisGO:0025489.6CALCA, TNFSF11, TNFRSF11A
8osteoclast differentiationGO:0303169.4TNFSF11, TNFRSF11A

Products for genes affiliated with Paget's Disease of Bone

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Sources for Paget's Disease of Bone

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet